Article
A novel F30S mutation in γS-crystallin causes autosomal dominant congenital nuclear cataract by increasing susceptibility to stresses.
International journal of biological macromolecules - 1 Mar 2021
Wang Kai-Jie, Liao Xiao-Yan, Lin Kunxia, Xi Yi-Bo, Wang Sha, Wan Xiu-Hua, Yan Yong-Bin
Abstract excerpt
Despite of increasingly accumulated genetic variations of autosomal dominant congenital cataracts (ADCC), the causative genes of many ADCC patients remains unknown. In this research, we identified a novel F30S mutation in γS-crystallin from a three-generation Chinese family with ADCC. The patients possessing the F30S mutation exhibited nuclear cataract phenotype. The potential molecular mechanism underlying ADCC...
Topics
- Adolescent
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Cataract
- Child, Preschool
- Family
- Female
- Humans
- Kinetics
- Male
- Models, Molecular
- Mutation
- Pedigree